Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 1/2020

01-01-2020 | Immunodeficiency | Letter to Editor

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions

Authors: Chupong Ittiwut, Wiparat Manuyakorn, Siraprapa Tongkobpetch, Suwat Benjaponpitak, Megan R. Fisher, Joshua D. Milner, Jonathan J. Lyons, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Published in: Journal of Clinical Immunology | Issue 1/2020

Login to get access

Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
1.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014;133:1410–9.CrossRef
2.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133:1400–9.CrossRef
3.
Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sorqvist E, Elgstoen KB, et al. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015;161:366–72.CrossRef
4.
Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014;95:96–107.CrossRef
5.
Bernth-Jensen JM, Holm M, Christiansen M. Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. J Allergy Clin Immunol. 2016;137:321–4.CrossRef
6.
Pacheco-Cuellar G, Gauthier J, Desilets V, Lachance C, Lemire-Girard M, Rypens F, et al. A novel PGM3 mutation is associated with a severe phenotype of bone marrow failure, severe combined immunodeficiency, skeletal dysplasia, and congenital malformations. J Bone Miner Res. 2017;32:1853–9.CrossRef
7.
Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, et al. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Mol Immunol. 2017;90:57–63.CrossRef
8.
Lundin KE, Wang Q, Hamasy A, Marits P, Uzunel M, Wirta V, et al. Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report. BMC Pediatr. 2018;18:285.CrossRef
9.
Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016;48:1581–6.CrossRef
10.
Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe LA, Lam C, et al. Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry. J Allergy Clin Immunol. 2017;140:291–4.CrossRef
11.
Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, et al. Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. J Allergy Clin Immunol. 2019;143:1638–40.CrossRef
12.
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, et al. Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med. 2017;376:21–31.CrossRef
Metadata
Title
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
Authors
Chupong Ittiwut
Wiparat Manuyakorn
Siraprapa Tongkobpetch
Suwat Benjaponpitak
Megan R. Fisher
Joshua D. Milner
Jonathan J. Lyons
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Publication date
01-01-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00693-6

Other articles of this Issue 1/2020

Journal of Clinical Immunology 1/2020 Go to the issue

Original Article

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Original Article

Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families

Original Article

Immune Dysregulation in the Tonsillar Microenvironment of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome

ORIGINAL ARTICLE

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

Letter to Editor

2019 Clinical Immunology Society Compensation Survey

Original Article

STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits